Hohl Diana María, Bezus Brenda, Ratowiecki Julia, Catanesi Cecilia Inés
Laboratorio de Diversidad Genética, Instituto Multidisciplinario de Biología Celular IMBICE (CONICET-UNLP-CIC), La Plata, Buenos Aires, Argentina.
Facultad de Ciencias Exactas, Universidad Nacional de La Plata, La Plata, Buenos Aires, Argentina.
Genet Mol Biol. 2018 Jan-Mar;41(1):50-58. doi: 10.1590/1678-4685-GMB-2017-0175.
The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those of other populations of the world for these polymorphisms (p < 0,01). The differences we found might respond to the admixed ethnic composition of Argentina; therefore, methods of analysis used in European populations should be carefully applied when studying the population of Argentina. These findings reaffirm the importance of this investigation in the Argentinian population for people identification based on iris color.
这项工作的目的是描述阿根廷布宜诺斯艾利斯省人群中与虹膜颜色相关的表型和基因型变异性，并评估该国当前分析方法的实用性。我们在118名个体中研究了IrisPlex试剂盒中包含的五个单核苷酸多态性（SNP），并用数字虹膜分析工具对眼睛颜色进行了量化。这些标记在整个样本中符合哈迪-温伯格平衡，但在棕色眼睛组中rs12913832不符合（似然比=8.429；p=0.004）。我们发现HERC2 rs12913832 GG与蓝色有显著关联（p<0.01），但其他标记与虹膜颜色没有任何关联。对于这些多态性，布宜诺斯艾利斯人群的结果与世界其他人群不同（p<0.01）。我们发现的差异可能与阿根廷混合的种族构成有关；因此，在研究阿根廷人群时，应谨慎应用欧洲人群中使用的分析方法。这些发现重申了在阿根廷人群中基于虹膜颜色进行身份识别的这项调查的重要性。
